Incidental Mutation 'IGL03126:Tet3'
ID410160
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tet3
Ensembl Gene ENSMUSG00000034832
Gene Nametet methylcytosine dioxygenase 3
SynonymsD230004J03Rik, B430006D22Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.589) question?
Stock #IGL03126
Quality Score
Status
Chromosome6
Chromosomal Location83362373-83459084 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 83376787 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 829 (R829L)
Ref Sequence ENSEMBL: ENSMUSP00000087049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089622] [ENSMUST00000186548]
Predicted Effect probably damaging
Transcript: ENSMUST00000089622
AA Change: R829L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087049
Gene: ENSMUSG00000034832
AA Change: R829L

DomainStartEndE-ValueType
low complexity region 27 38 N/A INTRINSIC
low complexity region 66 77 N/A INTRINSIC
low complexity region 115 126 N/A INTRINSIC
internal_repeat_1 160 277 4.9e-5 PROSPERO
low complexity region 279 297 N/A INTRINSIC
low complexity region 359 371 N/A INTRINSIC
low complexity region 418 456 N/A INTRINSIC
Tet_JBP 858 1570 N/A SMART
coiled coil region 1579 1603 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000186548
AA Change: R964L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139630
Gene: ENSMUSG00000034832
AA Change: R964L

DomainStartEndE-ValueType
Pfam:zf-CXXC 49 89 8e-6 PFAM
low complexity region 162 173 N/A INTRINSIC
low complexity region 201 212 N/A INTRINSIC
low complexity region 250 261 N/A INTRINSIC
internal_repeat_1 295 412 5.5e-5 PROSPERO
low complexity region 414 432 N/A INTRINSIC
low complexity region 494 506 N/A INTRINSIC
low complexity region 553 591 N/A INTRINSIC
Tet_JBP 993 1705 N/A SMART
coiled coil region 1714 1738 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the ten-eleven translocation (TET) gene family, including TET3, play a role in the DNA methylation process (Langemeijer et al., 2009 [PubMed 19923888]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Mice inheriting a null allele from a germ cell conditional null mother display impaired reprogramming of the paternal genome resulting in reduced embryo viability. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,481,027 N562S probably benign Het
4930402H24Rik A T 2: 130,791,995 probably null Het
Abi1 A G 2: 22,953,467 V316A probably benign Het
Acsm1 A T 7: 119,633,180 Q100L possibly damaging Het
Akr1c21 T C 13: 4,577,458 Y184H possibly damaging Het
Anks3 T C 16: 4,958,027 T104A probably damaging Het
Bcl2l2 A G 14: 54,884,767 Y129C probably damaging Het
Cenpf T A 1: 189,659,010 K875I probably damaging Het
Cntnap1 T C 11: 101,176,301 V15A probably benign Het
Elmo3 C A 8: 105,306,381 R66S probably damaging Het
Epn1 C A 7: 5,095,685 A370E probably benign Het
Esrrg T C 1: 187,997,987 probably benign Het
Fam129b C T 2: 32,876,386 R13W possibly damaging Het
Fgd5 T G 6: 92,065,164 L1034R probably damaging Het
Fpgs A G 2: 32,683,123 V567A possibly damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Hist1h3c T C 13: 23,745,442 K19R possibly damaging Het
Hsd17b14 T C 7: 45,556,079 F38S possibly damaging Het
Ikbkap A G 4: 56,779,717 S565P probably benign Het
Larp1 T C 11: 58,050,877 V712A possibly damaging Het
Mep1b T C 18: 21,088,560 F189S probably damaging Het
Mill1 T C 7: 18,255,907 V38A probably benign Het
Npy4r T C 14: 34,146,333 I333V probably benign Het
Numa1 G T 7: 102,000,667 E1202* probably null Het
Olfr231 A G 1: 174,117,710 I102T probably benign Het
Olfr401 C T 11: 74,121,784 A165V probably benign Het
Oxr1 A T 15: 41,820,249 Q356L possibly damaging Het
Prdx2 T C 8: 84,971,569 F130L probably damaging Het
Rasa1 A T 13: 85,256,396 S248R possibly damaging Het
Rgs19 A G 2: 181,691,321 S49P probably benign Het
Rinl A G 7: 28,795,650 probably benign Het
Serpinb11 T C 1: 107,379,924 F362L probably damaging Het
Slamf8 T C 1: 172,584,169 H253R possibly damaging Het
Trappc8 A G 18: 20,863,595 L420P probably damaging Het
Ube2u A T 4: 100,550,002 *353Y probably null Het
Wbp1l A C 19: 46,644,399 D46A probably damaging Het
Zbtb21 A G 16: 97,951,745 V474A probably damaging Het
Other mutations in Tet3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00929:Tet3 APN 6 83368655 missense probably benign 0.06
IGL01396:Tet3 APN 6 83369638 nonsense probably null
IGL02344:Tet3 APN 6 83403833 missense probably benign 0.04
IGL02987:Tet3 APN 6 83368092 missense probably damaging 0.99
IGL03155:Tet3 APN 6 83368383 missense probably damaging 1.00
IGL03286:Tet3 APN 6 83375778 missense probably damaging 1.00
Reedy UTSW 6 83368084 nonsense probably null
P0033:Tet3 UTSW 6 83368512 missense probably damaging 1.00
R0131:Tet3 UTSW 6 83368788 missense probably damaging 1.00
R0295:Tet3 UTSW 6 83369139 missense probably benign 0.14
R0504:Tet3 UTSW 6 83373794 missense probably damaging 1.00
R0524:Tet3 UTSW 6 83379942 missense probably damaging 1.00
R1061:Tet3 UTSW 6 83373323 missense probably damaging 0.99
R1160:Tet3 UTSW 6 83404452 missense probably benign 0.00
R1550:Tet3 UTSW 6 83386028 missense probably damaging 0.97
R1640:Tet3 UTSW 6 83369315 missense probably benign 0.44
R1658:Tet3 UTSW 6 83369057 missense probably benign 0.44
R1746:Tet3 UTSW 6 83368068 missense probably damaging 1.00
R1761:Tet3 UTSW 6 83403659 missense probably damaging 0.99
R1832:Tet3 UTSW 6 83403645 missense probably benign
R1835:Tet3 UTSW 6 83404163 missense possibly damaging 0.95
R1932:Tet3 UTSW 6 83404379 missense possibly damaging 0.94
R2014:Tet3 UTSW 6 83386075 missense probably damaging 1.00
R2230:Tet3 UTSW 6 83369471 missense probably damaging 1.00
R2232:Tet3 UTSW 6 83369471 missense probably damaging 1.00
R2922:Tet3 UTSW 6 83368512 missense probably damaging 1.00
R3429:Tet3 UTSW 6 83403419 missense probably damaging 1.00
R3430:Tet3 UTSW 6 83403419 missense probably damaging 1.00
R4291:Tet3 UTSW 6 83373199 missense probably damaging 1.00
R4349:Tet3 UTSW 6 83403275 missense probably benign
R4809:Tet3 UTSW 6 83402946 missense probably benign
R4846:Tet3 UTSW 6 83376883 nonsense probably null
R5039:Tet3 UTSW 6 83375896 missense probably damaging 1.00
R5233:Tet3 UTSW 6 83386063 missense probably damaging 1.00
R5363:Tet3 UTSW 6 83376764 critical splice donor site probably null
R5880:Tet3 UTSW 6 83370550 missense probably damaging 1.00
R6270:Tet3 UTSW 6 83375791 missense possibly damaging 0.86
R6277:Tet3 UTSW 6 83368084 nonsense probably null
R6564:Tet3 UTSW 6 83386070 missense possibly damaging 0.92
R6622:Tet3 UTSW 6 83403444 missense probably benign 0.00
R7089:Tet3 UTSW 6 83455024 missense possibly damaging 0.46
R7244:Tet3 UTSW 6 83370621 missense probably damaging 1.00
R7251:Tet3 UTSW 6 83404056 missense probably benign
R7361:Tet3 UTSW 6 83368094 missense probably benign 0.15
R7436:Tet3 UTSW 6 83368229 small insertion probably benign
R7438:Tet3 UTSW 6 83368229 small insertion probably benign
R7544:Tet3 UTSW 6 83404641 missense not run
R7552:Tet3 UTSW 6 83368307 missense not run
X0004:Tet3 UTSW 6 83403423 missense probably benign 0.17
Posted On2016-08-02